A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727494



Internal ID10311130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42903128..42903831hg38UCSC Ensembl
Outerchr4:42905145..42905848hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762311, essv6956362, essv6850709, essv6840735, essv6872315, essv6906902, essv6693629, essv6785849, essv6938467, essv6742718, essv6683485, essv6893000, essv6748350, essv6679918, essv6821921, essv6916151, essv6922565, essv6836914, essv6707934, essv6886557, essv6715012, essv6767116, essv6883431, essv6903230, essv6973812, essv6777670, essv6923486, essv6929912, essv6764671, essv6670229, essv6817507, essv6864924, essv6722753, essv6854424, essv6926352, essv6730373, essv6802187
SamplesSSM083, SSM045, SSM011, SSM064, SSM079, SSM087, SSM013, SSM073, SSM041, SSM084, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM089, SSM019, SSM003, SSM031, SSM067, SSM001, SSM014, SSM033, SSM020, SSM078, SSM053, SSM037, SSM022, SSM091, SSM034, SSM004, SSM043, SSM098, SSM056, SSM063, SSM012
Known GenesGRXCR1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2727494
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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